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Elevated urine 3-hydroxyglutaric level

MedGen UID:
1841727
Concept ID:
C5826565
Finding
Synonym: 3-hydroxyglutaric acid high in urine
 
HPO: HP:0034656

Definition

The concentration of 3-hydroxyglutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated urine 3-hydroxyglutaric level

Conditions with this feature

Glutaric aciduria, type 1
MedGen UID:
124337
Concept ID:
C0268595
Disease or Syndrome
The phenotypic spectrum of untreated glutaric acidemia type 1 (GA-1) ranges from the more common form (infantile-onset disease) to the less common form (later-onset disease – i.e., after age 6 years). Of note, the GA-1 phenotype can vary widely between untreated family members with the same genotype, primarily as a function of the age at which the first acute encephalopathic crisis occurred: three months to six years in infantile-onset GA-1 and after age six years in later-onset GA-1. Characteristically these crises result in acute bilateral striatal injury and subsequent complex movement disorders. In the era of newborn screening (NBS), the prompt initiation of treatment of asymptomatic infants detected by NBS means that most individuals who would have developed manifestations of either infantile-onset or later-onset GA-1 remain asymptomatic; however, they may be at increased risk for other manifestations (e.g., renal disease) that are becoming apparent as the understanding of the natural history of treated GA-1 continues to evolve.

Professional guidelines

PubMed

Shaik M, T P KV, Kamate M, A B V
Indian J Pediatr 2019 Nov;86(11):995-1001. Epub 2019 Jul 13 doi: 10.1007/s12098-019-03017-z. PMID: 31302874
Viau K, Ernst SL, Vanzo RJ, Botto LD, Pasquali M, Longo N
Mol Genet Metab 2012 Aug;106(4):430-8. Epub 2012 Jun 9 doi: 10.1016/j.ymgme.2012.05.024. PMID: 22728054

Recent clinical studies

Etiology

Wongkittichote P, Hong X, Master SR, Kaur S, Cuddapah SR, He M
Mol Genet Metab 2023 Apr;138(4):107549. Epub 2023 Feb 23 doi: 10.1016/j.ymgme.2023.107549. PMID: 36913764
Viau K, Ernst SL, Vanzo RJ, Botto LD, Pasquali M, Longo N
Mol Genet Metab 2012 Aug;106(4):430-8. Epub 2012 Jun 9 doi: 10.1016/j.ymgme.2012.05.024. PMID: 22728054

Diagnosis

Wongkittichote P, Hong X, Master SR, Kaur S, Cuddapah SR, He M
Mol Genet Metab 2023 Apr;138(4):107549. Epub 2023 Feb 23 doi: 10.1016/j.ymgme.2023.107549. PMID: 36913764
Dubland JA, Sinclair G, Vallance H, Rakić B
Clin Biochem 2022 Jul-Aug;105-106:81-86. Epub 2022 Apr 30 doi: 10.1016/j.clinbiochem.2022.04.016. PMID: 35500672
Shaik M, T P KV, Kamate M, A B V
Indian J Pediatr 2019 Nov;86(11):995-1001. Epub 2019 Jul 13 doi: 10.1007/s12098-019-03017-z. PMID: 31302874
Viau K, Ernst SL, Vanzo RJ, Botto LD, Pasquali M, Longo N
Mol Genet Metab 2012 Aug;106(4):430-8. Epub 2012 Jun 9 doi: 10.1016/j.ymgme.2012.05.024. PMID: 22728054
Matsumoto M, Matsumoto I, Shinka T, Kuhara T, Imamura H, Shimao S, Okada T
Acta Paediatr Jpn 1990 Feb;32(1):76-82. doi: 10.1111/j.1442-200x.1990.tb00787.x. PMID: 2109491

Prognosis

Wongkittichote P, Hong X, Master SR, Kaur S, Cuddapah SR, He M
Mol Genet Metab 2023 Apr;138(4):107549. Epub 2023 Feb 23 doi: 10.1016/j.ymgme.2023.107549. PMID: 36913764
Molven A, Matre GE, Duran M, Wanders RJ, Rishaug U, Njølstad PR, Jellum E, Søvik O
Diabetes 2004 Jan;53(1):221-7. doi: 10.2337/diabetes.53.1.221. PMID: 14693719

Clinical prediction guides

Molven A, Matre GE, Duran M, Wanders RJ, Rishaug U, Njølstad PR, Jellum E, Søvik O
Diabetes 2004 Jan;53(1):221-7. doi: 10.2337/diabetes.53.1.221. PMID: 14693719

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